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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-27985211-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27985211&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27985211,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000305242.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "NM_018076.5",
"protein_id": "NP_060546.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1044,
"cds_start": 383,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": "ENST00000305242.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "ENST00000305242.10",
"protein_id": "ENSP00000306410.5",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 1044,
"cds_start": 383,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": "NM_018076.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "NM_001290020.2",
"protein_id": "NP_001276949.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1044,
"cds_start": 383,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "ENST00000673439.1",
"protein_id": "ENSP00000500782.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1044,
"cds_start": 383,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_024448049.2",
"protein_id": "XP_024303817.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1107,
"cds_start": 383,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_024448050.2",
"protein_id": "XP_024303818.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1107,
"cds_start": 383,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_024448051.2",
"protein_id": "XP_024303819.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1107,
"cds_start": 383,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_024448052.2",
"protein_id": "XP_024303820.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1107,
"cds_start": 383,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_024448053.2",
"protein_id": "XP_024303821.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1087,
"cds_start": 383,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_011519527.2",
"protein_id": "XP_011517829.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1064,
"cds_start": 383,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425401.1",
"protein_id": "XP_047281357.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1064,
"cds_start": 383,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425402.1",
"protein_id": "XP_047281358.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1044,
"cds_start": 383,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425403.1",
"protein_id": "XP_047281359.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1044,
"cds_start": 383,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425404.1",
"protein_id": "XP_047281360.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1044,
"cds_start": 383,
"cds_end": null,
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"cdna_start": 612,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425405.1",
"protein_id": "XP_047281361.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1037,
"cds_start": 383,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425407.1",
"protein_id": "XP_047281363.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 994,
"cds_start": 383,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425408.1",
"protein_id": "XP_047281364.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 994,
"cds_start": 383,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425409.1",
"protein_id": "XP_047281365.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 974,
"cds_start": 383,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 516,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "XM_047425410.1",
"protein_id": "XP_047281366.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 974,
"cds_start": 383,
"cds_end": null,
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"cdna_start": 507,
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"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "XM_047425411.1",
"protein_id": "XP_047281367.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 920,
"cds_start": 11,
"cds_end": null,
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"cdna_start": 358,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "XM_047425412.1",
"protein_id": "XP_047281368.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 920,
"cds_start": 11,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "XM_047425413.1",
"protein_id": "XP_047281369.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 920,
"cds_start": 11,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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{
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},
{
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},
{
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],
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"allele_count_reference_population": 1,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.6039999723434448,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.021,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000305242.10",
"gene_symbol": "ODAD2",
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"effects": [
"missense_variant",
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"inheritance_mode": "AD,AR",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_002957065.1",
"gene_symbol": "LOC112268060",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}